Browsing by Author "Kunkel, Louis"

Now showing items 1-17 of 17

    • Analysis of Human Sarcospan as a Candidate Gene for CFEOM1 

      O'Brien, Kristine F; Engle, Elizabeth Carson; Kunkel, Louis Martens (BioMed Central, 2001)
      Background: Congenital fibrosis of the extraocular muscles type 1 (CFEOM1) is an autosomal dominant eye movement disorder linked to the pericentromere of chromosome 12 (12p11.2 - q12). Sarcospan is a member of the dystrophin ...

    • Automated DNA Mutation Detection Using Universal Conditions Direct Sequencing: Application to Ten Muscular Dystrophy Genes 

      Bennett, Richard R; Schneider, Hal E; Estrella, Elicia; Burgess, Stephanie; Cheng, Andrew S; Barrett, Caitlin; Lip, Va; Lai, Poh San; Shen, Yiping; Wu, Bai-Lin; Darras, Basil T.; Beggs, Alan Hendrie; Kunkel, Louis Martens (BioMed Central, 2009)
      Background: One of the most common and efficient methods for detecting mutations in genes is PCR amplification followed by direct sequencing. Until recently, the process of designing PCR assays has been to focus on individual ...

    • Beta-Synemin Expression in Cardiotoxin-Injected Rat Skeletal Muscle 

      Mizuno, Yuji; Guyon, Jeffrey R; Ishii, Akiko; Hoshino, Sachiko; Ohkoshi, Norio; Tamaoka, Akira; Okamoto, Koichi; Kunkel, Louis Martens (BioMed Central, 2007)
      Background: β-synemin was originally identified in humans as an α-dystrobrevin-binding protein through a yeast two-hybrid screen using an amino acid sequence derived from exons 1 through 16 of α-dystrobrevin, a region ...

    • Cellular and molecular mechanisms underlying muscular dystrophy 

      Rahimov, Fedik; Kunkel, Louis M. (The Rockefeller University Press, 2013)
      The muscular dystrophies are a group of heterogeneous genetic diseases characterized by progressive degeneration and weakness of skeletal muscle. Since the discovery of the first muscular dystrophy gene encoding dystrophin, ...

    • Characteristics and Predictive Value of Blood Transcriptome Signature in Males with Autism Spectrum Disorders 

      Kong, Sek Won; Collins, Christin D.; Shimizu-Motohashi, Yuko; Holm, Ingrid A.; Campbell, Malcolm G.; Lee, In-Hee; Brewster, Stephanie J.; Hanson, Ellen M.; Harris, Heather; Lowe, Kathryn R.; Saada, Adrianna; Mora, Andrea; Madison, Kimberly; Hundley, Rachel; Egan, Jessica; McCarthy, Jillian; Eran, Ally; Galdzicki, Michal; Rappaport, Leonard; Kunkel, Louis M.; Kohane, Isaac S. (Public Library of Science, 2012)
      Autism Spectrum Disorders (ASD) is a spectrum of highly heritable neurodevelopmental disorders in which known mutations contribute to disease risk in 20% of cases. Here, we report the results of the largest blood transcriptome ...

    • The Co-Morbidity Burden of Children and Young Adults with Autism Spectrum Disorders 

      Wattanasin, Nich; Churchill, Susanne; Kohane, Isaac Samuel; McMurry, Andrew; MacFadden, Douglas; Rappaport, Leonard Allan; Kunkel, Louis Martens; Bickel, Jonathan; Spence, Sarah J.; Murphy, Shawn Norman; Weber, Griffin M. (Public Library of Science, 2012)
      Objectives: Use electronic health records Autism Spectrum Disorder (ASD) to assess the comorbidity burden of ASD in children and young adults. Study Design: A retrospective prevalence study was performed using a distributed ...

    • Detection of Mutations in the Dystrophin Gene via Automated DHPLC Screening and Direct Sequencing 

      Bennett, Richard R; den Dunnen, Johan; O'Brien, Kristine F; Darras, Basil T.; Kunkel, Louis Martens (BioMed Central, 2001)
      Background: Currently molecular diagnostic laboratories focus only on the identification of large deletion and duplication mutations (spanning one exon or more) for Duchenne Muscular Dystrophy (DMD) yielding 65% of causative ...

    • Divergent dysregulation of gene expression in murine models of fragile X syndrome and tuberous sclerosis 

      Kong, Sek Won; Sahin, Mustafa; Collins, Christin D; Wertz, Mary H; Campbell, Malcolm G; Leech, Jarrett D; Krueger, Dilja; Bear, Mark F; Kunkel, Louis M; Kohane, Isaac S (BioMed Central, 2014)
      Background: Fragile X syndrome and tuberous sclerosis are genetic syndromes that both have a high rate of comorbidity with autism spectrum disorder (ASD). Several lines of evidence suggest that these two monogenic disorders ...

    • Genomic Organization and Single-Nucleotide Polymorphism Map of Desmuslin, a Novel Intermediate Filament Protein on Chromosome 15q26.3 

      Mizuno, Yuji; Puca, Annibale A; O'Brien, Kristine F; Beggs, Alan Hendrie; Kunkel, Louis Martens (BioMed Central, 2001)
      Background: Desmuslin is an α-dystrobrevin-interacting protein expressed primarily in heart and skeletal muscle. The desmuslin protein interacts with and is closely related to desmin, a protein encoded by a locus mutated ...

    • High-Density Genomewide Linkage Analysis of Exceptional Human Longevity Identifies Multiple Novel Loci 

      Boyden, Steven Edward; Kunkel, Louis Martens (Public Library of Science, 2010)
      Background: Human lifespan is approximately 25% heritable, and genetic factors may be particularly important for achieving exceptional longevity. Accordingly, siblings of centenarians have a dramatically higher probability ...

    • Improving Stem Cell-Based Therapy and Developing a Novel Gene Therapy Approach for Treating Duchenne Muscular Dystrophy (DMD) 

      Tabebordbar, Mohammadsharif (2016-01-26)
      Genetic mutations in muscle structural genes can compromise myofiber integrity, causing repeated muscle damage that ultimately exhausts muscle regenerative capacity and results in devastating degenerative conditions such ...

    • A missense mutation in TFRC, encoding transferrin receptor 1, causes combined immunodeficiency 

      Jabara, Haifa H.; Boyden, Steven E.; Chou, Janet; Ramesh, Narayanaswamy; Massaad, Michel J.; Benson, Halli; Bainter, Wayne; Fraulino, David; Rahimov, Fedik; Sieff, Colin; Liu, Zhi-Jian; Alshemmari, Salem H.; Al-Ramadi, Basel K.; Al-Dhekri, Hasan; Arnaout, Rand; Abu-Shukair, Mohammad; Vatsayan, Anant; Silver, Eli; Ahuja, Sanjay; Davies, E. Graham; Sola-Visner, Martha; Ohsumi, Toshiro K.; Andrews, Nancy C.; Notarangelo, Luigi D.; Fleming, Mark D.; Al-Herz, Waleed; Kunkel, Louis M.; Geha, Raif S. (2015)
      Patients with a combined immunodeficiency characterized by normal numbers, but impaired function, of T and B cells had a homozygous p.Tyr20His mutation in transferrin receptor 1 (TfR1), encoded by TFRC. The mutation disrupts ...

    • Mutations in the Satellite Cell Gene MEGF10 Cause a Recessive Congenital Myopathy with Minicores 

      Mahoney, Lane J.; Myers, Jennifer A.; Estrella, Elicia A.; Duncan, Anna R.; Dey, Friederike; DeChene, Elizabeth T.; Blasko-Goehringer, Jessica M.; Bönnemann, Carsten G.; Mendell, Jerry R.; Nishino, Ichizo; Boyden, Steven Edward; Kawahara, Genri; Mitsuhashi, Satomi; Darras, Basil T.; Lidov, Hart G.W.; Beggs, Alan Hendrie; Kunkel, Louis Martens; Kang, Peter Byung-Hoon (Springer-Verlag, 2012)
      We ascertained a nuclear family in which three of four siblings were affected with an unclassified autosomal recessive myopathy characterized by severe weakness, respiratory impairment, scoliosis, joint contractures, and ...

    • Reproducibility of Gene Expression Across Generations of Affymetrix Microarrays 

      Nimgaonkar, Ashish; Sanoudou, Despina; Butte, Atul J; Haslett, Judith N; Kunkel, Louis Martens; Beggs, Alan Hendrie; Kohane, Isaac Samuel (BioMed Central, 2003)
      Background: The development of large-scale gene expression profiling technologies is rapidly changing the norms of biological investigation. But the rapid pace of change itself presents challenges. Commercial microarrays ...

    • Skeletal Muscle MicroRNAs: Their Diagnostic and Therapeutic Potential in Human Muscle Diseases 

      Alexander, Matthew S.; Kunkel, Louis M. (2016)
      MicroRNAs (miRNAs) are small 21–24 nucleotide RNAs that are capable of regulating multiple signaling pathways across multiple tissues. MicroRNAs are dynamically regulated and change in expression levels during periods of ...

    • A Splice Site Mutation in Laminin-α2 Results in a Severe Muscular Dystrophy and Growth Abnormalities in Zebrafish 

      Gupta, Vandana; Kawahara, Genri; Myers, Jennifer A.; Chen, Aye T.; Hall, Thomas E.; Manzini, Maria Chiara; Currie, Peter D.; Zhou, Yi; Zon, Leonard Ira; Kunkel, Louis Martens; Beggs, Alan Hendrie (Public Library of Science, 2012)
      Congenital muscular dystrophy (CMD) is a clinically and genetically heterogeneous group of inherited muscle disorders. In patients, muscle weakness is usually present at or shortly after birth and is progressive in nature. ...

    • Zebrafish orthologs of human muscular dystrophy genes 

      Steffen, Leta S; Guyon, Jeffrey R; Vogel, Emily D; Beltre, Rosanna; Pusack, Timothy J; Zhou, Yi; Zon, Leonard Ira; Kunkel, Louis Martens (BioMed Central, 2007)
      Background: Human muscular dystrophies are a heterogeneous group of genetic disorders which cause decreased muscle strength and often result in premature death. There is no known cure for muscular dystrophy, nor have all ...